스테롤-4-알파-카르복실산 3-수소효소, 디카복실화 는 인간에서 NSDHL 유전자 에 의해 암호화 된 효소다.[5] [6] 이 효소는 내포체성 망막에 국부화되어 콜레스테롤 생합성 에 관여한다.[7]
임상적 유의성 NSDHL 유전자의 돌연변이는 지질대사의 X연계 우성 질환인 Child 증후군과 콜레스테롤 생합성이 교란되어 있으며, 일반적으로 남성에게 치명적이다.[7] [8]
참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000147383 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000031349 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Ohashi M, Mizushima N, Kabeya Y, Yoshimori T (Sep 2003). "Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets" . J Biol Chem . 278 (38): 36819–29. doi :10.1074/jbc.M301408200 PMID 12837764 . ^ ^ a b "Entrez Gene: NSDHL NAD(P) dependent steroid dehydrogenase-like" .^ Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH (Apr 2000). "Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome". Am J Med Genet . 90 (4): 339–46. doi :10.1002/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5 . PMID 10710235 .
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